ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2142C>T (p.Ile714=)

dbSNP: rs199595235
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544163 SCV000650932 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001550238 SCV001770535 likely benign not provided 2021-04-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002431677 SCV002731154 likely benign Cardiovascular phenotype 2019-08-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV001550238 SCV003917559 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing FLNC: BP4, BP7

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